S30C (p.Ser30Cys) variant of ANGPTL4 (Angiopoietin-related protein 4)
S30C (p.Ser30Cys) in ANGPTL4 (Angiopoietin-related protein 4) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.35 / 1. The record also includes population frequency data, published literature, and structural context.
S30C (p.Ser30Cys) variant details
- p.Ser30Cys
- gnomAD 19-8364410-C-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.352
- REVEL 0.15
- CADD 22.40
- PolyPhen-2 0.53
- SIFT 0.02
- Most common in the REMAINING population (allele frequency 0.00048)
- Structural context available
- Literature evidence available